Alpha 1 Anti-trypsin Deficiency Detail

Alpha 1 Anti-trypsin Deficiency

Your Path

Alpha 1 Anti-trypsin Deficiency

Alpha 1 Anti-trypsin Deficiency Detail 🌳 View as Mindmap

Etiology

Genetic d/o that leads to lung destruction and liver dysfxn

Risk Factors

Age 30-40, family hx

Symptoms

Sob

Progressive doe

Episodic exacerbations
Similar to COPD but no/limited smoking hx
Chronic progressive liver dz

Physical Exam Findings

Wheezing

Signs chronic liver dz

Tests

Alpha-1 anti-trypsin level low, genetic testing
Lung Disease: CXR, PFTs
Elevated alt/ast, other liver tests
Rule out other liver disease with labs, imaging: NAFLD/NASH, ETOH, hep B, Hep C, Wilson's Dz, hemochromatosis, auto-immune hepatitis, DILI, other